Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Left anterior descending coronary artery occlusion
disease Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C0270985
Disease: Alcohol myopathy
Alcohol myopathy
disease Musculoskeletal Diseases; Nervous System Diseases; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
Refractory Chronic Myelogenous Leukemia, BCR-ABL1 Positive
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 6 1 0.010 None 1.000 1 2011 2011
CUI: C3888004
Disease: HERMANSKY-PUDLAK SYNDROME 5
HERMANSKY-PUDLAK SYNDROME 5
disease Disease or Syndrome 6 20 0.010 None 1.000 1 2019 2019
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 35 0.010 None 1.000 1 2013 2013
CUI: C1135188
Disease: Critical illness myopathy
Critical illness myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2013 2013
CUI: C0476237
Disease: Metabolic symptoms
Metabolic symptoms
phenotype Sign or Symptom 9 0.010 None 1.000 1 2018 2018
CUI: C0546483
Disease: Lung cyst
Lung cyst
disease Pathological Conditions, Signs and Symptoms; Neoplasms; Respiratory Tract Diseases Disease or Syndrome 9 0.010 None 1.000 1 2014 2014
CUI: C1737261
Disease: Acute myeloid leukaemia progression
Acute myeloid leukaemia progression
disease Neoplastic Process 9 0.010 None 1.000 1 2019 2019
CUI: C0751699
Disease: Minimally Conscious State
Minimally Conscious State
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 12 0.010 None 1.000 1 2019 2019
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 10 0.010 None 1.000 1 2014 2014
CUI: C0740985
Disease: Acute anaemia
Acute anaemia
disease Disease or Syndrome 18 0.010 None 1.000 1 2018 2018
CUI: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 11 0.010 None 1.000 1 2014 2014
Gastroparesis with diabetes mellitus
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 21 0.020 None 1.000 2 2019 2019
Nephrogenic Diabetes Insipidus, Type I
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 24 43 0.010 None 1.000 1 2016 2016
CUI: C4324298
Disease: Tumour inflammation
Tumour inflammation
disease Disease or Syndrome 24 0.010 None 1.000 1 2019 2019
Neonatal Hypoxic Ischemic Encephalopathy
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 26 2 0.010 None 1.000 1 2017 2017
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 29 13 0.010 None 1.000 1 2017 2017
CUI: C0398368
Disease: Lymphatic Abnormalities
Lymphatic Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Anatomical Abnormality 30 6 0.010 None 1.000 1 2018 2018
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 32 128 0.010 None 1.000 1 2014 2014
CUI: C4316899
Disease: Cystinosis
Cystinosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 32 27 0.010 None 1.000 1 2012 2012
CUI: C0155686
Disease: Acute myocarditis
Acute myocarditis
disease Cardiovascular Diseases Disease or Syndrome 33 0.010 None 1.000 1 2017 2017
CUI: C0270952
Disease: Muscular Dystrophy, Oculopharyngeal
Muscular Dystrophy, Oculopharyngeal
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 33 4 0.010 None 1.000 1 2008 2008
CUI: C0280253
Disease: stage, gastric cancer
stage, gastric cancer
phenotype Neoplastic Process 34 0.010 None 1.000 1 2016 2016
CUI: C0751074
Disease: Diabetic Neuralgia
Diabetic Neuralgia
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 36 0.010 None 1.000 1 2018 2018